(used for variant description)
(last modified November 1, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_002116.7 in the HLA-A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering HLA-A transcript NM_002116.7.
(upstream sequence)
. . g.5024
gagaagccaatcagtgtcgtcgcg c.-61
. . . . . . g.5084
gtcgctgttctaaagcccgcacgcacccaccgggactcagattctccccagacgccgagg c.-1
. . . . . . g.5144
ATGGCCGTCATGGCGCCCCGAACCCTCCTCCTGCTACTCTCGGGGGCCCTGGCCCTGACC c.60
M A V M A P R T L L L L L S G A L A L T p.20
. | 02 . . . . . g.5334
CAGACCTGGGCGG | GCTCCCACTCCATGAGGTATTTCTTCACATCCGTGTCCCGGCCCGGC c.120
Q T W A G | S H S M R Y F F T S V S R P G p.40
. . . . . . g.5394
CGCGGGGAGCCCCGCTTCATCGCCGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTC c.180
R G E P R F I A V G Y V D D T Q F V R F p.60
. . . . . . g.5454
GACAGCGACGCCGCGAGCCAGAGGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGG c.240
D S D A A S Q R M E P R A P W I E Q E G p.80
. . . . . . g.5514
CCGGAGTATTGGGACCAGGAGACACGGAATGTGAAGGCCCAGTCACAGACTGACCGAGTG c.300
P E Y W D Q E T R N V K A Q S Q T D R V p.100
. . . . | 03 . . g.5815
GACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGCCG | GTTCTCACACCATCCAG c.360
D L G T L R G Y Y N Q S E A G | S H T I Q p.120
. . . . . . g.5875
ATAATGTATGGCTGCGACGTGGGGTCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGAC c.420
I M Y G C D V G S D G R F L R G Y R Q D p.140
. . . . . . g.5935
GCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCG c.480
A Y D G K D Y I A L N E D L R S W T A A p.160
. . . . . . g.5995
GACATGGCGGCTCAGATCACCAAGCGCAAGTGGGAGGCGGCCCATGAGGCGGAGCAGTTG c.540
D M A A Q I T K R K W E A A H E A E Q L p.180
. . . . . . g.6055
AGAGCCTACCTGGATGGCACGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAG c.600
R A Y L D G T C V E W L R R Y L E N G K p.200
. | 04 . . . . g.6693
GAGACGCTGCAGCGCACGG | ACCCCCCCAAGACACATATGACCCACCACCCCATCTCTGAC c.660
E T L Q R T D | P P K T H M T H H P I S D p.220
. . . . . . g.6753
CATGAGGCCACCCTGAGGTGCTGGGCCCTGGGCTTCTACCCTGCGGAGATCACACTGACC c.720
H E A T L R C W A L G F Y P A E I T L T p.240
. . . . . . g.6813
TGGCAGCGGGATGGGGAGGACCAGACCCAGGACACGGAGCTCGTGGAGACCAGGCCTGCA c.780
W Q R D G E D Q T Q D T E L V E T R P A p.260
. . . . . . g.6873
GGGGATGGAACCTTCCAGAAGTGGGCGGCTGTGGTGGTGCCTTCTGGAGAGGAGCAGAGA c.840
G D G T F Q K W A A V V V P S G E E Q R p.280
. . . . . | 05 . g.7035
TACACCTGCCATGTGCAGCATGAGGGTCTGCCCAAGCCCCTCACCCTGAGATGGG | AGCTG c.900
Y T C H V Q H E G L P K P L T L R W E | L p.300
. . . . . . g.7095
TCTTCCCAGCCCACCATCCCCATCGTGGGCATCATTGCTGGCCTGGTTCTCCTTGGAGCT c.960
S S Q P T I P I V G I I A G L V L L G A p.320
. . . . . | 06 . g.7597
GTGATCACTGGAGCTGTGGTCGCTGCCGTGATGTGGAGGAGGAAGAGCTCAG | ATAGAAAA c.1020
V I T G A V V A A V M W R R K S S D | R K p.340
. . | 07 . . . . g.7799
GGAGGGAGTTACACTCAGGCTGCAA | GCAGTGACAGTGCCCAGGGCTCTGATGTGTCCCTC c.1080
G G S Y T Q A A S | S D S A Q G S D V S L p.360
. | 08 g.8028
ACAGCTTGTAAAG | TGTGA c.1098
T A C K V | X p.365
. . . . . . g.8088
gacagctgccttgtgtgggactgagaggcaagagttgttcctgcccttccctttgtgact c.*60
. . . . . . g.8148
tgaagaaccctgactttgtttctgcaaaggcacctgcatgtgtctgtgttcgtgtaggca c.*120
. . . . . . g.8208
taatgtgaggaggtggggagaccaccccacccccatgtccaccatgaccctcttcccacg c.*180
. . . . . . g.8268
ctgacctgtgctccctccccaatcatctttcctgttccagagaggtggggctgaggtgtc c.*240
. . . . . . g.8328
tccatctctgtctcaacttcatggtgcactgagctgtaacttcttccttccctattaaaa c.*300
. . . . . . g.8388
ttagaaccttagtataaatttactttctcaaattcttgccatgagaggttgatgagttaa c.*360
. . . . . . g.8448
ttaaaggagaagattcctaaaatttgagagacaaaataaatggaagacatgagaaccttc c.*420
g.8457
cagagtcca c.*429
(downstream sequence)
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